Overview

Topoisomerase (DNA) II alpha (TOP2A) is a gene that encodes a protein that controls and alters topologic states of DNA during transcription. Missense mutations, synonymous mutations, frameshift deletions, nonsense mutations, and frameshift insertions are observed in cancers such as colon cancer, skin cancer, and endometrial cancer.

TOP2A is altered in 0.31% of all cancers with conventional glioblastoma multiforme, cutaneous melanoma, breast invasive ductal carcinoma, lung adenocarcinoma, and bladder urothelial carcinoma having the greatest prevalence of alterations [3].

The most common alterations in TOP2A are TOP2A Amplification (0.55%), TOP2A K1110E (0.19%), TOP2A T955A (0.15%), TOP2A R450Q (0.10%), and TOP2A D442N (0.07%) [3].

Significance of TOP2A in Diseases

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.